Expression Data
Introduction The vast majority of gene expression data in relation to CDH is from animal models and targets specific genes using the techniques of RT-PCR and immunohistochemistry. Other recently developed techniques include Gene Expression Microarrays, Optical Projection Tomography, and RNA-SEQ. Gene Expression Microarrays Global gene expression was recently investigated by Burgos et al, in the hypoplastic lungs of the nitrofen-induced CDH rodent. Significantly reduced expression was identified for genes encoding growth factors and growth factor receptors involved in lung development, transcription factors, water and ion channels, and genes involved in angiogenesis and the extracellular matrix . Genes whose expression was decreased in 8/9 comparisons are listed below, those in bold were decreased in all comparisons; FGF Family *'Fgfr1' (Fibroblast growth factor receptor 1) *Fgfr2 (Fibroblast growth factor receptor 2) *Fgfr3 (Fibroblast growth factor receptor 3) TGF Superfamily *Tgfb1i1 (Transforming growth factor β 1 induced transcript 1) *'Tgfb3' (Transforming growth factor β 3) *'Tgfbr2' (Transforming growth factor β receptor II) *'Tgfbr3' (Transforming growth factor β receptor 3) *Vegfa (Vascular endothelial growth factor A) Transcription Factors *Foxq1 (HNF-3/forkhead homolog-Q1) *Rara (Retinoic acid receptor α) *Egr1 (Early growth response 1) Water Transport *Aqp1 (Aquaporin 1) *Aqp4 (Aquaporin 4) Ion Transport *Clic4 (Chloride intracellular channel 4) *'Clcn7' (Chloride channel 7) *'Scnn1a' (Sodium channel non–voltage-gated type I α polypeptide) *'Scnn1g' (Sodium channel non–voltage-gated 1 γ) *'Scn3b' (Sodium channel voltage-gated type III β) *'Kcnc3' (Potassium voltage-gated channel Shaw-related subfamily member 3) *Kcnj8 (Potassium inwardly rectifying channel subfamily J member 8) *Kcnj15 (Potassium inwardly rectifying channel subfamily J member 15) *'Cacna1d' (Calcium channel voltage-dependent L type α 1D subunit) Angiogenesis *Epas1 (Endothelial PAS domain protein 1) *Rtn4 (Reticulon 4) *Hyu1 (Hypoxia up-regulated 1) *Vegfa (Vascular endothelial growth factor A) *Edg5 (Endothelial differentiation sphingolipid G-protein–coupled receptor 5) Vascular Tone Regulation *Nos3 (Nitric oxide synthase 3 endothelial cell) *'Agtrl1' (Angiotensin receptor-like 1) *'Agtrap' (Angiotensin II receptor-associated protein) Glycolosis *Eno1 (Enolase 1 α) *Hk1 (Hexokinase 1) *G6pc (Glucose-6-phosphatase catalytic) Various *Timp2 (Tissue inhibitor of metalloproteinase 2) *Timp3 (Tissue inhibitor of metalloproteinase 3) *Itga6 (Integrin α 6) *Pld3 (Phospholipase D3) Optical Projection Tomography (OPT) OPT is a recently developed microscopy technique which allows for 3D visualisation of gene expression patterns and distributions in the developing embryo. This technique has been applied to the study of gene expression in the nitrofen induced hypoplastic lungs of rodents . For more information on this technique, see the OPT website of the MRC Human Genetics Unit, Edinburgh, UK. Gene Expression in the Developing Diaphragm Clugston et al investigated the expression of candidate genes from the 15q26, 8p23.1 and 8q23 loci in the developing diaphragm of rodents . Genes, Genomic loci, and Gene Functions are listed below; ST8SIA2 (15q26.1) Enzyme catalyzing polysialic acid synthesis CHD2 (15q26.1) Chromatin remodeling RGMA (15q26.1) Repulsive guidance molecule MCTP2 (15q26.2) Calcium-mediated signaling COUP-TFII (15q26.2) Transcription factor ARRDC4 (15q26.3) Unknown IGF1R (15q26.3) Signaling receptor DMN (15q26.3) Structural Protein TTC23 (15q26.3) Unknown LRRC28 (15q26.3) Unknown FOG2 (8q23.1) Transcription factor GATA4 (8p23.1) Transcription factor Table - Gene Expression |} Down-regulated genes |} References